Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PKHD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011512990.1:p.Leu3148Phe	CA364421054 XM_011514688.2:c.9444G>T CA364421055 XM_011514688.2:c.9444G>C